Karin Tuschl
Great Ormond Street Hospital(GB)University College London(GB)
Publications by Year
Research Areas
Heavy Metal Exposure and Toxicity, Trace Elements in Health, Metabolism and Genetic Disorders, Iron Metabolism and Disorders, Hemoglobinopathies and Related Disorders
Most-Cited Works
- → Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in Man(2012)374 cited
- → Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia(2016)314 cited
- → Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)(2010)264 cited
- → Manganese and the Brain(2013)202 cited
- → Influence of hematocrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometry(2006)139 cited
- → Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia—A new metabolic disorder(2008)128 cited